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rs80359848

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs80359848(-;A)
Make rs80359848(A;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position27776725
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359848
dbSNP (old)rs80359848
ClinGenrs80359848
ebirs80359848
HLIrs80359848
Exacrs80359848
Gnomadrs80359848
Varsomers80359848
Maprs80359848
PheGenIrs80359848
Biobankrs80359848
1000 genomesrs80359848
hgdprs80359848
ensemblrs80359848
gopubmedrs80359848
geneviewrs80359848
scholarrs80359848
googlers80359848
pharmgkbrs80359848
gwascentralrs80359848
openSNPrs80359848
23andMers80359848
23andMe allrs80359848
SNP Nexus

SNPshotrs80359848
SNPdbers80359848
MSV3drs80359848
GWAS Ctlgrs80359848
Max Magnitude0
ClinVar
Risk rs80359848(A;A)
Alt rs80359848(A;A)
Reference Rs80359848(-;-)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634242dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020407.1,


[PMID 15821733] Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.